(A) Patient details and images of white spotting (demonstrated by Wood’s light in Cases 3,4,5,7). (B) Top genes correlated with BAP1 expression in normal human melanocytes (NHMs), the TCGA_SCKM and Lund cohorts, as ranked by Spearman coefficient, were subjected to Gene Ontology Biological Processes (GO-BP), GO-Cellular Compartment (GO-CC), and Human Phenotype Ontology (HPO) analysis; all GO and HPO analyses exhibited FDR < 0.05. (C) The 500 genes most correlated with BAP1 expression were subjected to HOMER analysis. Pigmentation-related transcription factors, MITF and TFE3, are highlighted in blue. (D) Suppression of Bap1 by sh(BAP1) in 3 melanoma cell lines leads to decreases in SOX10 and MITF, reduced cellular proliferation (Day 0 = 1; P values determined by t test on Day 5), and pigmentation loss. (E) Skin phenotypes of various Bap1 genotypes. Animal 1 (Bap1^fl/fl) and Animal 2 (Tyr:CreA/Bap1^fl/WT) have no visible phenotype. Animals 3–5 (Tyr:CreA/Bap1^fl/fl) showed depigmentation of the fore- and hindpaws (red circles) while animals 4 and 5 had white spotting on the midabdomen. (F) Melanocyte quantitation (Sox10+ cells per hair follicle (HF)) shows significant reductions in the number of Sox10+ melanocytes (red arrows) in the depigmented abdominal area, ear, and dorsal paw of Tyr:CreA/Bap1^fl/fl mouse compared with the Bap1^fl/fl mouse (2-tailed t test).